Published in Am J Hum Genet on May 01, 1997
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet (1998) 15.09
Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet (1998) 5.95
Population genetics of BRCA1 and BRCA2. Am J Hum Genet (1997) 3.28
Mutation in Brca2 stimulates error-prone homology-directed repair of DNA double-strand breaks occurring between repeated sequences. EMBO J (2001) 3.21
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet (2000) 2.77
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet (2001) 2.19
Molecular classification of familial non-BRCA1/BRCA2 breast cancer. Proc Natl Acad Sci U S A (2003) 2.10
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet (1998) 1.88
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nat Genet (2015) 1.76
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci U S A (2000) 1.66
Familial breast cancer: an investigation into the outcome of treatment for early stage disease. Fam Cancer (2001) 1.62
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet (1998) 1.61
Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. Proc Natl Acad Sci U S A (1999) 1.54
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. EPMA J (2010) 1.52
A probability model for predicting BRCA1 and BRCA2 mutations in breast and breast-ovarian cancer families. Br J Cancer (2001) 1.44
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Breast Cancer Res (2005) 1.19
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet (1999) 1.06
Promoter hypomethylation, especially around the E26 transformation-specific motif, and increased expression of poly (ADP-ribose) polymerase 1 in BRCA-mutated serous ovarian cancer. BMC Cancer (2013) 1.04
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. Biomed Res Int (2013) 1.02
Frequent somatic loss of BRCA1 in breast tumours from BRCA2 germ-line mutation carriers and vice versa. Br J Cancer (2001) 0.95
BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. J Med Genet (2001) 0.92
Clinicopathological study of male breast carcinoma: 24 years of experience. Ann Saudi Med (2009) 0.92
BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients. Br J Cancer (2000) 0.91
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). BMC Cancer (2013) 0.88
BRCA2 mutations in 154 finnish male breast cancer patients. Neoplasia (2004) 0.88
BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. Br J Cancer (2003) 0.88
BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1. Br J Cancer (1998) 0.86
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy. BMC Cancer (2006) 0.85
A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. Fam Cancer (2005) 0.81
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. BMC Med Genomics (2015) 0.81
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. BMC Med Genet (2011) 0.80
Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India. Fam Cancer (2013) 0.79
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. BMC Med Genomics (2016) 0.76
Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer. PLoS One (2015) 0.75
BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients. J Med Genet (1997) 0.75
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. BMC Med Genet (2016) 0.75
Frequencies of single-nucleotide polymorphisms and mutations in the BRCA1 gene in patients with hereditary breast or ovarian cancer. Dokl Biol Sci (2002) 0.75
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science (1994) 36.53
Identification of the breast cancer susceptibility gene BRCA2. Nature (1996) 17.14
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (1994) 8.73
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet (1996) 6.43
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet (1995) 4.86
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA (1995) 4.45
A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet (1996) 4.38
BRCA1 is secreted and exhibits properties of a granin. Nat Genet (1996) 4.26
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet (1994) 4.15
Transcriptional activation by BRCA1. Nature (1996) 3.64
Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet (1996) 3.56
Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet (1996) 2.93
BRCA2 mutations in primary breast and ovarian cancers. Nat Genet (1996) 2.91
BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet (1996) 2.75
Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet (1996) 2.18
Inherited breast and ovarian cancer. Hum Mol Genet (1995) 1.87
Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet (1996) 1.75
Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet (1996) 1.74
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet (1996) 1.69
Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc Natl Acad Sci U S A (1995) 1.44
Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer (1995) 1.33
Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res (1996) 1.32
Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am J Hum Genet (1996) 1.24
Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer. Br J Cancer (1996) 1.03
Detection of germline BRCA1 mutations in breast cancer patients by quantitative messenger RNA in situ hybridization. Cancer Res (1996) 0.92
Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man. Cancer (1984) 0.91
The yeast genome--a common currency. Nat Genet (1996) 0.90
Gene-expression profiles in hereditary breast cancer. N Engl J Med (2001) 29.80
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet (2003) 18.67
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell (1996) 7.86
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet (1999) 6.23
Alcohol, tobacco and breast cancer--collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease. Br J Cancer (2002) 5.83
Maintenance therapy with budesonide and formoterol in chronic obstructive pulmonary disease. Eur Respir J (2003) 5.53
TP53 mutations and breast cancer prognosis: particularly poor survival rates for cases with mutations in the zinc-binding domains. Genes Chromosomes Cancer (1995) 4.59
Efficacy and safety of budesonide/formoterol in the management of chronic obstructive pulmonary disease. Eur Respir J (2003) 4.20
Rapid transition of cardiac myocytes from hyperplasia to hypertrophy during postnatal development. J Mol Cell Cardiol (1996) 4.11
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer (2008) 3.87
Adjuvant tamoxifen therapy for early stage breast cancer and second primary malignancies. Stockholm Breast Cancer Study Group. J Natl Cancer Inst (1995) 3.79
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet (1996) 3.67
Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group. N Engl J Med (1998) 3.60
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet (1998) 3.33
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet (2002) 3.07
Effect of pregnancy on prognosis for young women with breast cancer. Lancet (1994) 2.92
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst (2001) 2.74
Recurrent t(16;17)(q22;p13) in aneurysmal bone cysts. Genes Chromosomes Cancer (1999) 2.72
Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice. Circ Res (2001) 2.51
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet (2001) 2.50
High-resolution genome-wide array-based comparative genome hybridization reveals cryptic chromosome changes in AML and MDS cases with trisomy 8 as the sole cytogenetic aberration. Leukemia (2006) 2.45
Frequent amplification of chromosomal region 20q12-q13 in ovarian cancer. Clin Cancer Res (2000) 2.43
High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res (1996) 2.43
High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst (2000) 2.41
Tumour necrosis factor blockers do not increase overall tumour risk in patients with rheumatoid arthritis, but may be associated with an increased risk of lymphomas. Ann Rheum Dis (2005) 2.25
Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol (1998) 2.24
Indicators of prognosis in node-negative breast cancer. N Engl J Med (1990) 2.23
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet (1999) 2.20
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Hum Mol Genet (2001) 2.19
Rectal washout and local recurrence of cancer after anterior resection. Br J Surg (2010) 2.16
Is the use of sunscreens a risk factor for malignant melanoma? Melanoma Res (1995) 2.11
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. Blood (1999) 2.07
Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. Cancer (1998) 2.06
Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res (1997) 2.03
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Enriched environment increases neurogenesis in the adult rat dentate gyrus and improves spatial memory. J Neurobiol (1999) 2.01
Amplification and deletion of topoisomerase IIalpha associate with ErbB-2 amplification and affect sensitivity to topoisomerase II inhibitor doxorubicin in breast cancer. Am J Pathol (2000) 2.01
A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics (1991) 1.99
Significantly higher levels of vascular endothelial growth factor (VEGF) and shorter survival times for patients with primary operable triple-negative breast cancer. Ann Oncol (2009) 1.97
Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen. J Biol Chem (1998) 1.94
CD30-positive large cell lymphomas ('Ki-1 lymphoma') are associated with a chromosomal translocation involving 5q35. Br J Haematol (1990) 1.93
Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet (2005) 1.91
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders. J Med Genet (2008) 1.88
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88
A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. Cancer Res (2000) 1.86
Mouse model of desmin-related cardiomyopathy. Circulation (2001) 1.84
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases. Am J Hum Genet (1994) 1.84
Tumour biological features of BRCA1-induced breast and ovarian cancer. Eur J Cancer (1997) 1.82
Characterization of topoisomerase II alpha gene amplification and deletion in breast cancer. Genes Chromosomes Cancer (1999) 1.82
An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer. Cancer Res (1997) 1.82
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet (2005) 1.79
Familial testicular cancer in Norway and southern Sweden. Br J Cancer (1996) 1.76
Use of sunbeds or sunlamps and malignant melanoma in southern Sweden. Am J Epidemiol (1994) 1.74
Genomic profiling of malignant melanoma using tiling-resolution arrayCGH. Oncogene (2007) 1.72
Age-related dopamine D2/D3 receptor loss in extrastriatal regions of the human brain. Neurobiol Aging (2000) 1.71
Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet (2005) 1.71
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. J Clin Endocrinol Metab (2000) 1.71
Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet (1996) 1.69
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
Risk of cutaneous malignant melanoma in relation to use of sunbeds: further evidence for UV-A carcinogenicity. Br J Cancer (2000) 1.67
Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus. Proc Natl Acad Sci U S A (2000) 1.66
Segregation analysis of balanced pericentric inversions in pedigree data. Clin Genet (1986) 1.65
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. Am J Hum Genet (1998) 1.61
Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int (2010) 1.60
The importance of the depth of invasion in stage T1 bladder carcinoma: a prospective cohort study. J Urol (1997) 1.59
Standardization of flow cytometry in myelodysplastic syndromes: a report from an international consortium and the European LeukemiaNet Working Group. Leukemia (2012) 1.57
Renal function in newly diagnosed multiple myeloma--a demographic study of 1353 patients. The Nordic Myeloma Study Group. Eur J Haematol (1994) 1.56
Occupational handling of chemicals preceding Hodgkin's disease in men. Br Med J (1979) 1.56